Associated Papers
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.
Ruggeri G et al.
American Journal of Medical Genetics. Part A, 2018
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